A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136171



Internal ID19267259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:67667268..67671268hg38UCSC Ensembl
Outerchr13:68241400..68245400hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg384001
hg194001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989778
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136171
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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